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NC_000002.11:g.(?_219646906)_(219738567_?)del AND Cholestanol storage disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 7, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001963049.3

Allele description [Variation Report for NC_000002.11:g.(?_219646906)_(219738567_?)del]

NC_000002.11:g.(?_219646906)_(219738567_?)del

Genes:
WNT6:Wnt family member 6 [Gene - OMIM - HGNC]
CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]
PRKAG3:protein kinase AMP-activated non-catalytic subunit gamma 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Chr2: 219646906 - 219738567 (on Assembly GRCh37)
Preferred name:
NC_000002.11:g.(?_219646906)_(219738567_?)del
HGVS:
NC_000002.11:g.(?_219646906)_(219738567_?)del

Condition(s)

Name:
Cholestanol storage disease (CTX)
Synonyms:
CEREBRAL CHOLESTERINOSIS; CTX: Cerebrotendinous xanthomatosis; Cerebrotendinous Xanthomatosis
Identifiers:
MONDO: MONDO:0008948; MedGen: C0238052; Orphanet: 909; OMIM: 213700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002243967Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 7, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

Garuti R, Croce MA, Tiozzo R, Dotti MT, Federico A, Bertolini S, Calandra S.

J Lipid Res. 1997 Nov;38(11):2322-34.

PubMed [citation]
PMID:
9392430

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP.

Brain. 2000 May;123 ( Pt 5):908-19.

PubMed [citation]
PMID:
10775536
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002243967.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the CYP27A1 gene has been identified. Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 28, 2025